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Article

Heavy Tau Burden with Subtle Amyloid β Accumulation in the Cerebral Cortex and Cerebellum in a Case of Familial Alzheimer's Disease with APP Osaka Mutation.

International journal of molecular sciences - 22 Jun 2020

Shimada Hiroyuki, Minatani Shinobu, Takeuchi Jun, Takeda Akitoshi, Kawabe Joji, Wada Yasuhiro, Mawatari Aya, Watanabe Yasuyoshi, Shimada Hitoshi, Higuchi Makoto, Suhara Tetsuya, Tomiyama Takami, Itoh Yoshiaki

Abstract excerpt

We previously identified a novel mutation in amyloid precursor protein from a Japanese pedigree of familial Alzheimer's disease, FAD (Osaka). Our previous positron emission tomography (PET) study revealed that amyloid β (Aβ) accumulation was negligible in two sister cases of this pedigree, indicating a possibility that this mutation induces dementia without forming senile plaques. To further explore the...

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Identifiers

PMID: 32580499
DOI: 10.3390/ijms21124443
PMCID: PMC7352205

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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